Canonical Allele Identifier: CA162937848

Gene: COL1A2

Linked Data

• dbSNP Id: rs534383730
• gnomAD v3: 7-94422815-C-T
• gnomAD v4: 7-94422815-C-T
• MyVariant Identifiers: chr7:g.94052127C>T (hg19) ; chr7:g.94422815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422815C>T , CM000669.2:g.94422815C>T	GRCh38
NC_000007.13:g.94052127C>T , CM000669.1:g.94052127C>T	GRCh37
NC_000007.12:g.93890063C>T	NCBI36
NG_007405.1:g.33255C>T , LRG_2:g.33255C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.2404-142C>T MANE Select	ENSP00000297268.6:n.2404-142C>T
ENST00000297268.10:c.2404-142C>T	ENSP00000297268.6:n.2404-142C>T
ENST00000481570.5:n.345C>T
ENST00000497316.5:n.801-142C>T
ENST00000620463.1:c.2398-142C>T	ENSP00000477719.1:n.2398-142C>T
NM_000089.3:c.2404-142C>T , LRG_2t1:c.2404-142C>T	NP_000080.2:n.2404-142C>T
NM_000089.4:c.2404-142C>T MANE Select	NP_000080.2:n.2404-142C>T